Variant report

Variant	rs9974231
Chromosome Location	chr21:17497688-17497689
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10222055	1.00[EUR][1000 genomes]
rs28424182	1.00[EUR][1000 genomes]
rs28886124	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58748147	1.00[EUR][1000 genomes]
rs61645626	1.00[EUR][1000 genomes]
rs73367165	1.00[EUR][1000 genomes]
rs7349006	1.00[EUR][1000 genomes]
rs73893205	1.00[EUR][1000 genomes]
rs73893207	1.00[EUR][1000 genomes]
rs9808767	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9976336	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9984291	1.00[EUR][1000 genomes]
rs9985009	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17496000-17497800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr21:17496200-17497800	Enhancers	NHLF	lung
3	chr21:17496600-17497800	Enhancers	NHEK	skin
4	chr21:17496800-17498000	Flanking Active TSS	NHDF-Ad	bronchial
5	chr21:17497000-17497800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr21:17497000-17497800	Flanking Active TSS	Osteobl	bone
7	chr21:17497000-17498000	Active TSS	Adipose Nuclei	Adipose
8	chr21:17497000-17498000	Active TSS	Right Atrium	heart
9	chr21:17497000-17498400	Active TSS	Hela-S3	cervix
10	chr21:17497200-17497800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr21:17497200-17498400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr21:17497600-17498200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr21:17497600-17498400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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